Disease: Ichthyosis with hypotrichosis- autosomal recessive
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Atypical ichthyosiform erythroderma and congenital neurosensory deafness--a distinct syndrome
- Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice
- Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase
- Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
- Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype
- Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis
- CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews
- Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2
- Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification
- Confirmation of the origin of NISCH syndrome
- Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation--a new genetic syndrome
- Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis?
- Corneal lesions in ichthyosis
- Corneal lesions in ichthyosis (author's transl)
- Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28
- Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report
- Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing
- Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis
- Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis
- Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease
- Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes
- Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis
- Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease
- Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex
- NISCH syndrome with hypothyroxinemia
- NISCH syndrome, a rare cause of neonatal cholestasis: A case report
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature
- Order and disorder in corneocyte adhesion
- Patients with autosomal recessive congenital ichthyosis present a distinctive pattern of alopecia
- Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis
- Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene
- Schopf-Schulz-Passarge Syndrome
- Trichothiodystrophy and congenital heart disease in two sisters
- Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family